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Complex cortical dysplasia with other brain malformations 5(CDCBM5)

MedGen UID:
816737
Concept ID:
C3810407
Disease or Syndrome
Synonyms: CDCBM5; CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5
 
Gene (location): TUBB2A (6p25.2)
 
Monarch Initiative: MONDO:0014337
OMIM®: 615763

Definition

An autosomal dominant condition caused by mutation(s) in the TUBB2A gene, encoding tubulin beta-2A chain. It is characterized by cortical dysplasia and is associated with impaired intellectual development, hypotonia, global developmental delay, cortical dysplasia, and dysmorphic corpus callosum. [from NCI]

Clinical features

From HPO
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Cortical dysplasia
MedGen UID:
98129
Concept ID:
C0431380
Congenital Abnormality
The presence of developmental dysplasia of the cerebral cortex.
Hypsarrhythmia
MedGen UID:
195766
Concept ID:
C0684276
Finding
Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).
Severe global developmental delay
MedGen UID:
332436
Concept ID:
C1837397
Finding
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Cerebellar vermis hypoplasia
MedGen UID:
333548
Concept ID:
C1840379
Finding
Underdevelopment of the vermis of cerebellum.
Hypoplasia of the brainstem
MedGen UID:
334226
Concept ID:
C1842688
Finding
Underdevelopment of the brainstem.
Absent speech
MedGen UID:
340737
Concept ID:
C1854882
Finding
Complete lack of development of speech and language abilities.
Simplified gyral pattern
MedGen UID:
413664
Concept ID:
C2749675
Finding
An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Infantile spasms
MedGen UID:
854616
Concept ID:
C3887898
Disease or Syndrome
Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).
Multifocal epileptiform discharges
MedGen UID:
866864
Concept ID:
C4021219
Finding
An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci).
Reduced cerebral white matter volume
MedGen UID:
1815057
Concept ID:
C5706151
Finding
An abnormally low volume of the white matter of the brain.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Enlarged posterior fossa
MedGen UID:
340998
Concept ID:
C1855889
Finding
Abnormal increased size of the posterior cranial fossa.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).

Professional guidelines

PubMed

Togi S, Ura H, Hatanaka H, Niida Y
Int J Mol Sci 2022 Sep 22;23(19) doi: 10.3390/ijms231911175. PMID: 36232477Free PMC Article
Tian X, Glass JE, Kwiatkowski DJ, Towbin AJ, Li Y, Sund KL, Krueger DA, Franz DN, McCormack FX, Gupta N
Ann Am Thorac Soc 2021 May;18(5):815-819. doi: 10.1513/AnnalsATS.202008-911OC. PMID: 33171065
Schwartz RA, Fernández G, Kotulska K, Jóźwiak S
J Am Acad Dermatol 2007 Aug;57(2):189-202. doi: 10.1016/j.jaad.2007.05.004. PMID: 17637444

Recent clinical studies

Etiology

Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group, Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H
Genet Med 2022 Oct;24(10):2194-2203. Epub 2022 Aug 24 doi: 10.1016/j.gim.2022.07.013. PMID: 36001086Free PMC Article
Thiele EA, Bebin EM, Bhathal H, Jansen FE, Kotulska K, Lawson JA, O'Callaghan FJ, Wong M, Sahebkar F, Checketts D, Knappertz V; GWPCARE6 Study Group
JAMA Neurol 2021 Mar 1;78(3):285-292. doi: 10.1001/jamaneurol.2020.4607. PMID: 33346789Free PMC Article
Manara R, Brotto D, Bugin S, Pelizza MF, Sartori S, Nosadini M, Azzolini S, Iaconetta G, Parazzini C, Murgia A, Peron A, Canevini P, Labriola F, Vignoli A, Toldo I
Neuroradiology 2018 Aug;60(8):813-820. Epub 2018 Jun 17 doi: 10.1007/s00234-018-2045-x. PMID: 29909560
Sasongko TH, Ismail NF, Zabidi-Hussin Z
Cochrane Database Syst Rev 2016 Jul 13;7(7):CD011272. doi: 10.1002/14651858.CD011272.pub2. PMID: 27409709Free PMC Article
Waite A, Tinsley CL, Locke M, Blake DJ
Ann Med 2009;41(5):344-59. doi: 10.1080/07853890802668522. PMID: 19172427

Diagnosis

Togi S, Ura H, Hatanaka H, Niida Y
Int J Mol Sci 2022 Sep 22;23(19) doi: 10.3390/ijms231911175. PMID: 36232477Free PMC Article
Thiele EA, Bebin EM, Bhathal H, Jansen FE, Kotulska K, Lawson JA, O'Callaghan FJ, Wong M, Sahebkar F, Checketts D, Knappertz V; GWPCARE6 Study Group
JAMA Neurol 2021 Mar 1;78(3):285-292. doi: 10.1001/jamaneurol.2020.4607. PMID: 33346789Free PMC Article
Ruggieri M, Polizzi A, Marceca GP, Catanzaro S, Praticò AD, Di Rocco C
Childs Nerv Syst 2020 Oct;36(10):2229-2268. Epub 2020 Sep 17 doi: 10.1007/s00381-020-04758-5. PMID: 32940773
Kohrman MH
Pediatr Neurol 2012 May;46(5):267-75. doi: 10.1016/j.pediatrneurol.2012.02.015. PMID: 22520346
Hohman DW, Noghrehkar D, Ratnayake S
Eur J Intern Med 2008 Jul;19(5):319-24. Epub 2007 Dec 26 doi: 10.1016/j.ejim.2007.10.015. PMID: 18549932

Therapy

Thiele EA, Bebin EM, Bhathal H, Jansen FE, Kotulska K, Lawson JA, O'Callaghan FJ, Wong M, Sahebkar F, Checketts D, Knappertz V; GWPCARE6 Study Group
JAMA Neurol 2021 Mar 1;78(3):285-292. doi: 10.1001/jamaneurol.2020.4607. PMID: 33346789Free PMC Article
Sasongko TH, Ismail NF, Zabidi-Hussin Z
Cochrane Database Syst Rev 2016 Jul 13;7(7):CD011272. doi: 10.1002/14651858.CD011272.pub2. PMID: 27409709Free PMC Article
Kohrman MH
Pediatr Neurol 2012 May;46(5):267-75. doi: 10.1016/j.pediatrneurol.2012.02.015. PMID: 22520346
Hohman DW, Noghrehkar D, Ratnayake S
Eur J Intern Med 2008 Jul;19(5):319-24. Epub 2007 Dec 26 doi: 10.1016/j.ejim.2007.10.015. PMID: 18549932
Schwartz RA, Fernández G, Kotulska K, Jóźwiak S
J Am Acad Dermatol 2007 Aug;57(2):189-202. doi: 10.1016/j.jaad.2007.05.004. PMID: 17637444

Prognosis

d'Orio P, Pelliccia V, Biondi D, Scarpa P, Gozzo F, Revay M, Cardinale F, Tassi L, Cossu M
Seizure 2022 Apr;97:8-14. Epub 2022 Feb 27 doi: 10.1016/j.seizure.2022.02.013. PMID: 35247673
Thiele EA, Bebin EM, Bhathal H, Jansen FE, Kotulska K, Lawson JA, O'Callaghan FJ, Wong M, Sahebkar F, Checketts D, Knappertz V; GWPCARE6 Study Group
JAMA Neurol 2021 Mar 1;78(3):285-292. doi: 10.1001/jamaneurol.2020.4607. PMID: 33346789Free PMC Article
Fohlen M, Ferrand-Sorbets S, Delalande O, Dorfmüller G
Childs Nerv Syst 2018 Aug;34(8):1511-1519. Epub 2018 May 15 doi: 10.1007/s00381-018-3826-6. PMID: 29766265
Mailleux L, Klingels K, Fiori S, Simon-Martinez C, Demaerel P, Locus M, Fosseprez E, Boyd RN, Guzzetta A, Ortibus E, Feys H
Eur J Paediatr Neurol 2017 Sep;21(5):763-772. Epub 2017 May 29 doi: 10.1016/j.ejpn.2017.05.006. PMID: 28606752
Kohrman MH
Pediatr Neurol 2012 May;46(5):267-75. doi: 10.1016/j.pediatrneurol.2012.02.015. PMID: 22520346

Clinical prediction guides

Norambuena A, Sun X, Wallrabe H, Cao R, Sun N, Pardo E, Shivange N, Wang DB, Post LA, Ferris HA, Hu S, Periasamy A, Bloom GS
Neurobiol Dis 2022 Jul;169:105737. Epub 2022 Apr 20 doi: 10.1016/j.nbd.2022.105737. PMID: 35452786Free PMC Article
d'Orio P, Pelliccia V, Biondi D, Scarpa P, Gozzo F, Revay M, Cardinale F, Tassi L, Cossu M
Seizure 2022 Apr;97:8-14. Epub 2022 Feb 27 doi: 10.1016/j.seizure.2022.02.013. PMID: 35247673
Shao X, Zhang X, Xu W, Zhang Z, Zhang J, Guo H, Jiang T, Zhang W
Eur Radiol 2021 Aug;31(8):5605-5614. Epub 2021 Mar 10 doi: 10.1007/s00330-020-07626-7. PMID: 33693995
Mailleux L, Klingels K, Fiori S, Simon-Martinez C, Demaerel P, Locus M, Fosseprez E, Boyd RN, Guzzetta A, Ortibus E, Feys H
Eur J Paediatr Neurol 2017 Sep;21(5):763-772. Epub 2017 May 29 doi: 10.1016/j.ejpn.2017.05.006. PMID: 28606752
Arya R, Tenney JR, Horn PS, Greiner HM, Holland KD, Leach JL, Gelfand MJ, Rozhkov L, Fujiwara H, Rose DF, Franz DN, Mangano FT
J Neurosurg Pediatr 2015 Jan;15(1):26-33. doi: 10.3171/2014.10.PEDS14107. PMID: 25360852

Recent systematic reviews

Romero VI, Arias-Almeida B, Aguiar SA
BMC Genomics 2022 Dec 22;23(1):849. doi: 10.1186/s12864-022-09071-w. PMID: 36550402Free PMC Article
Sasongko TH, Ismail NF, Zabidi-Hussin Z
Cochrane Database Syst Rev 2016 Jul 13;7(7):CD011272. doi: 10.1002/14651858.CD011272.pub2. PMID: 27409709Free PMC Article

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